17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication Genes & inheritance 1 supporting source confidence 97% novelty 75%

Novel compound heterozygous mutation in DNAH9 causes complex congenital heart disease DNAH9 causes complex congenital heart disease

Congenital heart disease (CHD) is the most common birth defect, affecting 2-8% of newborns, with a marked impact on neonatal health.

How this was derived

Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:368. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Novel compound heterozygous mutation in DNAH9 causes complex congen... pmc 2025-01-01 yesterday 1.00